US task force: Ashkenazi Jewish women should be screened for breast cancer genes
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US task force: Ashkenazi Jewish women should be screened for breast cancer genes

High level of BRCA1 or BRCA2 mutation found in Ashkenazi Jews; gene testing allows affected women to consider steps to lower their risk, like preventive mastectomies

This undated fluorescence-colored microscope image made available by the National Institutes of Health in September 2016 shows a culture of human breast cancer cells. (Ewa Krawczyk/National Cancer Institute via AP)
This undated fluorescence-colored microscope image made available by the National Institutes of Health in September 2016 shows a culture of human breast cancer cells. (Ewa Krawczyk/National Cancer Institute via AP)

Ashkenazi Jewish women should be screened for the BRCA1 and BRCA2 genes linked to breast cancer, according to the recommendation by a US task force announced in an editorial this week in the Journal of the American Medical Association.

One in 40 Ashkenazi Jews have the genetic mutations, compared with one in 300 people in the general population, according to studies.

At issue are genes called BRCA1 and BRCA2. When they’re mutated, the body can’t repair damaged DNA as well, greatly increasing the chances of breast, ovarian and certain other cancers. Gene testing allows affected women to consider steps to lower their risk, such as when actress Angelina Jolie underwent a preventive mastectomy several years ago.

Most cancer isn’t caused by BRCA mutations — they account for 5% to 10% of breast cancers and 15% of ovarian cancers — so the gene tests aren’t for everyone. But mutations cluster in families, and the US Preventive Services Task Force has long recommended that doctors screen women who have relatives with BRCA-related cancers and refer those who might benefit from gene testing to a genetic counselor to help them decide.

Among those groups are Ashkenazi Jewish women.

Identifying BRCA mutation carriers “can be lifesaving, and should be a part of routine medical care,” Drs. Susan Domchek of the University of Pennsylvania and Mark Robson of Memorial Sloan Kettering Cancer Center, who weren’t involved with the new guidelines, wrote in an editorial accompanying them.

The editorial also said that “researchers are actively reporting higher BRCA1 and BRCA2 mutation frequencies across diverse populations than previously realized.”

It also called for an increase in the number of cancer-specific genetic counselors in the United States.

Don’t skip the genetic counseling, recommended task force member Dr. Carol Mangione of the University of California, Los Angeles.

BRCA testing can cause anxiety and sometimes gives confusing results, finding mutations that might not be dangerous — things the counselors are trained to interpret. There’s a shortage of genetic counselors, particularly in rural areas, and she said counseling by phone can work.

There’s a wide array of gene tests, some that search just for BRCA mutations and others that test dozens of additional genes at the same time. There’s even a direct-to-consumer kit sold by 23andMe — but Domchek and Robson warned it only detects the three mutations found most in women of Ashkenazi Jewish descent, not dozens of other mutations.

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